A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204533



Internal ID22353370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47179930..47184463hg38UCSC Ensembl
chr1:47645602..47650135hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384534
hg194534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364927, nssv14364928, nssv14364926, nssv14364925
SamplesHG00512, HG00731, HG00732, HG00513
Known GenesLINC00853, PDZK1IP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204533
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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